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NM_001079866.2(BCS1L):c.821del (p.Pro274fs) AND GRACILE syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000671907.3

Allele description [Variation Report for NM_001079866.2(BCS1L):c.821del (p.Pro274fs)]

NM_001079866.2(BCS1L):c.821del (p.Pro274fs)

Gene:
BCS1L:BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)
HGVS:
  • NC_000002.12:g.218662611del
  • NG_008018.1:g.7956del
  • NG_033099.1:g.1933del
  • NM_001079866.2:c.821delMANE SELECT
  • NM_001257342.2:c.821del
  • NM_001257343.2:c.821del
  • NM_001257344.2:c.821del
  • NM_001318836.2:c.461del
  • NM_001320717.2:c.821del
  • NM_001371443.1:c.821del
  • NM_001371444.1:c.821del
  • NM_001371446.1:c.821del
  • NM_001371447.1:c.821del
  • NM_001371448.1:c.821del
  • NM_001371449.1:c.821del
  • NM_001371450.1:c.821del
  • NM_001371451.1:c.461del
  • NM_001371452.1:c.320del
  • NM_001371453.1:c.320del
  • NM_001371454.1:c.320del
  • NM_001371455.1:c.320del
  • NM_001371456.1:c.320del
  • NM_001374085.1:c.821del
  • NM_001374086.1:c.320del
  • NM_004328.5:c.821del
  • NP_001073335.1:p.Pro274fs
  • NP_001244271.1:p.Pro274fs
  • NP_001244272.1:p.Pro274fs
  • NP_001244273.1:p.Pro274fs
  • NP_001305765.1:p.Pro154fs
  • NP_001307646.1:p.Pro274fs
  • NP_001358372.1:p.Pro274fs
  • NP_001358373.1:p.Pro274fs
  • NP_001358375.1:p.Pro274fs
  • NP_001358376.1:p.Pro274fs
  • NP_001358377.1:p.Pro274fs
  • NP_001358378.1:p.Pro274fs
  • NP_001358379.1:p.Pro274fs
  • NP_001358380.1:p.Pro154fs
  • NP_001358381.1:p.Pro107fs
  • NP_001358382.1:p.Pro107fs
  • NP_001358383.1:p.Pro107fs
  • NP_001358384.1:p.Pro107fs
  • NP_001358385.1:p.Pro107fs
  • NP_001361014.1:p.Pro274fs
  • NP_001361015.1:p.Pro107fs
  • NP_004319.1:p.Pro274fs
  • LRG_539:g.7956del
  • NC_000002.11:g.219527331del
  • NC_000002.11:g.219527334del
  • NM_004328.4:c.821delC
  • NR_163955.1:n.1828del
Protein change:
P107fs
Links:
dbSNP: rs760559534
NCBI 1000 Genomes Browser:
rs760559534
Molecular consequence:
  • NM_001079866.2:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257342.2:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257343.2:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001257344.2:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001318836.2:c.461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001320717.2:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371443.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371444.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371446.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371447.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371448.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371449.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371450.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371451.1:c.461del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371452.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371453.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371454.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371455.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001371456.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374085.1:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001374086.1:c.320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004328.5:c.821del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_163955.1:n.1828del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
GRACILE syndrome (FLNMS)
Synonyms:
Finnish lactic acidosis with hepatic hemosiderosis; Fellman syndrome; Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011308; MedGen: C1864002; Orphanet: 53693; OMIM: 603358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796940Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 5, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV002076354Natera, Inc.no assertion criteria providedPathogenic
(May 1, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome.

Shigematsu Y, Hayashi R, Yoshida K, Shimizu A, Kubota M, Komori M, Shimomura Y, Niizeki H.

J Dermatol. 2017 Jun;44(6):e111-e112. doi: 10.1111/1346-8138.13736. Epub 2017 Jan 20. No abstract available.

PubMed [citation]
PMID:
28105683

Details of each submission

From Counsyl, SCV000796940.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002076354.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 23, 2022

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